Canonical Allele Identifier: CA9922043
Gene: PCK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2652429
ClinVar RCV Id: RCV003431375
dbSNP Id: rs147708648
ExAC: 20:56137858 G / C
gnomAD v2: 20-56137858-G-C
gnomAD v3: 20-57562802-G-C
gnomAD v4: 20-57562802-G-C
MyVariant Identifiers: chr20:g.56137858G>C (hg19) chr20:g.57562802G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562802G>C , CM000682.2:g.57562802G>C GRCh38
NC_000020.10:g.56137858G>C , CM000682.1:g.56137858G>C GRCh37
NC_000020.9:g.55571264G>C NCBI36
NG_008205.1:g.6722G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.513G>C MANE Select ENSP00000319814.4:p.Arg171=
ENST00000319441.5:c.513G>C ENSP00000319814.4:p.Arg171=
ENST00000467047.1:n.1723G>C
ENST00000498194.1:n.455G>C
NM_002591.3:c.513G>C NP_002582.3:p.Arg171=
XM_011528839.1:c.117G>C XP_011527141.1:p.Arg39=
XM_024451888.1:c.117G>C XP_024307656.1:p.Arg39=
NM_002591.4:c.513G>C MANE Select NP_002582.3:p.Arg171=
Search 100 bp 5'
Search 100 bp 3'